Variant report

Variant	rs17347060
Chromosome Location	chr7:18377263-18377264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18373835..18376264-chr7:18376406..18378512,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1178330	0.82[ASN][1000 genomes]
rs1178385	0.82[ASN][1000 genomes]
rs17346975	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17347173	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17418779	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17418786	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17418807	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663430	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17663510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17674701	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17731016	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17731305	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17731333	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302149	0.88[ASN][1000 genomes]
rs302150	0.82[ASN][1000 genomes]
rs302151	0.82[ASN][1000 genomes]
rs302158	0.88[ASN][1000 genomes]
rs302160	0.88[ASN][1000 genomes]
rs413369	0.82[ASN][1000 genomes]
rs596103	1.00[ASN][1000 genomes]
rs7784302	0.87[EUR][1000 genomes]
rs7795469	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18374400-18378600	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:18376200-18378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:18376800-18377400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:18376800-18377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:18376800-18377600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:18376800-18378000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:18377000-18377400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr7:18377000-18377400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:18377000-18379200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:18377200-18377400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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